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J Neuroimmunol ; 340: 577143, 2020 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-31931436


INTRODUCTION: MOG antibody associated disease is a relatively new disorder for which the full clinical spectrum is being described and the literature is evolving. The current study outlines the observations on a cohort of patients diagnosed with this clinical entity. METHODS: This is a retrospective review of prospectively followed up patients with MOG antibody positive neurological illness. Case records of patients following up in neuroimmunology clinic of All India Institute of Medical Sciences(AIIMS), New Delhi from January 2007 to July 2019 were reviewed for MOG antibody positivity and those patients with positive antibody result were included in this study. FINDINGS: A total of 20 patients were tested positive for MOG-IgG antibody. 75% were females. Median (Range) age was 30.5 years (8-58). Median disease duration was 22 months (1-139). Most common symptom at presentation was decrease in vision (unilateral or bilateral) (80%). Most common syndrome at onset was unilateral optic neuritis (ON) (40%) followed by bilateral ON (35%), transverse myelitis (TM)(15%), ON plus TM (5%) and cerebral syndrome (5%). Median number of demyelinating episodes per person was 2.5. Out of 29 affected eyes, 26 had good outcome. Out of 7 patients with motor disability, 5 patients had good outcome. CONCLUSION: MOG antibody associated disease presents predominantly as recurrent ON, but may also present as an opticospinal, cerebral or brainstem syndrome and recurrent myelitis. Many of the patients had relapses, but had good outcomes with treatment.

Neurol Sci ; 40(5): 1055-1058, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30631989


Langerhans cell histiocytosis (LCH) is a rare disorder in adults which usually manifests with involvement of multiple organ systems, including the central nervous system. We describe an unusual case of biopsy-proven LCH presenting with frontotemporal-dominant cognitive impairment with hypothalamic involvement, along with multisystem disease. We propose that the dementia was probably an immune-mediated process triggered by LCH which responded dramatically to high-dose steroids.

Disfunção Cognitiva/diagnóstico , Demência/diagnóstico , Histiocitose de Células de Langerhans/diagnóstico , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Disfunção Cognitiva/tratamento farmacológico , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Demência/tratamento farmacológico , Demência/patologia , Demência/fisiopatologia , Diagnóstico Diferencial , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/fisiopatologia , Humanos , Masculino , Síndrome
Bone ; 116: 321-332, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30077757


Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4). Herein, we investigated two teenagers and one middle-aged man with SOST in three families living in the state of Tamil Nadu in southern India. Next generation sequencing of their genomic DNA using our high bone density gene panel revealed SOST1 in the teenagers caused by a unique homozygous nonsense SOST mutation (c.129C > G, p.Tyr43X) and SOST2 in the man caused by homozygosity for one of the two known homozygous missense LRP4 mutations (c.3508C > T, p.Arg1170Trp). He becomes the fourth individual and the first non-European recognized with SOST2. His clinical course was milder than the life-threatening SOST1 demonstrated by the teenagers who suffered blindness, deafness, and raised intracranial pressure, yet his congenital syndactyly was more striking by featuring bony fusion of digits. All three patients were from consanguineous families and heterozygosity for the SOST mutation was documented in the mothers of both teenagers. Thus, on the endogamous genetic background of Indian Tamils, SOST1 from sclerostin deficiency compared to SOST2 from LRP4 deactivation is a more severe and life-threatening disorder featuring complications due to osteosclerosis of especially the skull. In contrast, the syndactyly of SOST2 is particularly striking by involving bony fusion of some digits. Both the SOST and LRP4 mutations in this ethnic population likely reflect genetic founders.

Hiperostose/patologia , Sindactilia/patologia , Adolescente , Sequência de Bases , Proteínas Morfogenéticas Ósseas/genética , Osso e Ossos/metabolismo , Análise Mutacional de DNA , Família , Feminino , Marcadores Genéticos/genética , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Índia , Proteínas Relacionadas a Receptor de LDL/genética , Masculino , Pessoa de Meia-Idade , Minerais/metabolismo , Linhagem , Sindactilia/diagnóstico por imagem , Sindactilia/genética